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Retinitis pigmentosa

ORPHA:791 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(13)

  • Abnormal electroretinogramHP:0000512
  • Abnormal retinal pigmentationHP:0007703
  • Abnormal retinal vascular morphologyHP:0008046
  • BlindnessHP:0000618
  • Conductive hearing impairmentHP:0000405
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • PhotophobiaHP:0000613
  • Progressive night blindnessHP:0007675
  • Retinal degenerationHP:0000546
  • Sensorineural hearing impairmentHP:0000407
  • Spicular pigmentation of the retinaHP:0007737
  • Visual impairmentHP:0000505

Frequent (79-30%)(15)

  • Abnormal central response of multifocal electroretinogramHP:0030488
  • Abnormal full-field electroretinogramHP:0030466
  • Attenuation of retinal blood vesselsHP:0007843
  • Cystoid macular edemaHP:0011505
  • GlaucomaHP:0000501
  • HyperinsulinemiaHP:0000842
  • KeratoconusHP:0000563
  • NyctalopiaHP:0000662
  • OphthalmoplegiaHP:0000602
  • Optic disc drusenHP:0012426
  • Optic disc pallorHP:0000543
  • Peripheral visual field lossHP:0007994
  • Photoreceptor outer segment loss on macular OCTHP:0030610
  • Posterior subcapsular cataractHP:0007787
  • Retinal atrophyHP:0001105

Occasional (29-5%)(3)

  • Color vision defectHP:0000551
  • PhotopsiaHP:0030786
  • Reduced visual acuityHP:0007663